Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000538872 [[175930, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 287626]] [[176048, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 284199]]
ENST00000326261 [[176048, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 286390], [286497, 287620]] [[176048, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 284199]]
ENST00000382841 [[186541, 186878], [208311, 208380], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [280412, 280496]] [[247438, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [280412, 280487]]
ENST00000540907 [[278143, 278271], [280277, 280327], [280412, 280632]] None
ENST00000537151 [[278220, 278271], [280277, 280327], [283781, 284076], [284382, 284525]] None
ENST00000544511 [[285647, 285729], [287176, 287620]] None
NM_001170738 [[176048, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 287626]] [[176048, 176602], [208311, 208380], [234798, 235078], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [283764, 284199]]
NM_015232 [[186541, 186878], [208311, 208380], [247432, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [280412, 280494]] [[247438, 248520], [250289, 250451], [266190, 266313], [266693, 266860], [271091, 271231], [272659, 272785], [274599, 274699], [274894, 275056], [278178, 278271], [280277, 280327], [280412, 280487]]
Promoter
Chrom Start End Description
chr12 175930 175960 CAGE_peak_2_at_IQSEC3_5end
chr12 248037 248051 CAGE_peak_4_at_IQSEC3_5end
chr12 248064 248075 CAGE_peak_6_at_IQSEC3_5end
chr12 248165 248209 CAGE_peak_1_at_IQSEC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I000386 386481 390506 2.09 [{'connected_gene': 'CCDC77', 'score': 577.13}, {'connected_gene': 'KDM5A', 'score': 573.97}, {'connected_gene': 'ENSG00000261799', 'score': 13.45}, {'connected_gene': 'IQSEC3', 'score': 12.64}, {'connected_gene': 'RAD52', 'score': 9.94}, {'connected_gene': 'ENSG00000250132', 'score': 9.87}, {'connected_gene': 'GC12M000384', 'score': 0.44}, {'connected_gene': 'LOC105369594', 'score': 0.39}, {'connected_gene': 'PIR47780', 'score': 0.28}]
chr12 GH12I000179 171709 171969 0.52 [{'connected_gene': 'SLC6A12', 'score': 4.94}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.39}, {'connected_gene': 'ENSG00000256540', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000181 173425 173597 0.38 [{'connected_gene': 'SLC6A12', 'score': 4.83}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'ENSG00000256540', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000172 171996 172185 0.49 [{'connected_gene': 'SLC6A12', 'score': 5.37}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.39}, {'connected_gene': 'ENSG00000256540', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000178 173625 173834 0.38 [{'connected_gene': 'SLC6A12', 'score': 5.37}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'ENSG00000256540', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000056 56855 57004 0.66 [{'connected_gene': 'KDM5A', 'score': 9.94}, {'connected_gene': 'IQSEC3', 'score': 0.44}, {'connected_gene': 'GC12M000043', 'score': 0.39}]
chr12 GH12I000580 580681 582380 0.77 [{'connected_gene': 'RAD52', 'score': 40.86}, {'connected_gene': 'ENSG00000261799', 'score': 35.2}, {'connected_gene': 'LOC105369595', 'score': 20.15}, {'connected_gene': 'IQSEC3', 'score': 12.62}, {'connected_gene': 'CCDC77', 'score': 11.0}, {'connected_gene': 'ERC1', 'score': 10.42}, {'connected_gene': 'LOC100049716', 'score': 6.25}, {'connected_gene': 'PIR38262', 'score': 0.77}, {'connected_gene': 'GC12M000554', 'score': 0.39}, {'connected_gene': 'NINJ2', 'score': 0.18}]
chr12 GH12I000100 99695 99824 0.43 [{'connected_gene': 'LOC574538', 'score': 11.45}, {'connected_gene': 'SLC6A12', 'score': 11.42}, {'connected_gene': 'SLC6A13', 'score': 11.38}, {'connected_gene': 'ENSG00000256694', 'score': 11.35}, {'connected_gene': 'ENSG00000255671', 'score': 11.2}, {'connected_gene': 'LOC101929384', 'score': 11.19}, {'connected_gene': 'IQSEC3', 'score': 5.13}, {'connected_gene': 'ENSG00000256948', 'score': 0.39}]
chr12 GH12I000099 99075 99164 0.49 [{'connected_gene': 'LOC574538', 'score': 11.44}, {'connected_gene': 'SLC6A12', 'score': 11.42}, {'connected_gene': 'SLC6A13', 'score': 11.39}, {'connected_gene': 'ENSG00000256694', 'score': 11.35}, {'connected_gene': 'ENSG00000255671', 'score': 11.2}, {'connected_gene': 'LOC101929384', 'score': 11.19}, {'connected_gene': 'ENSG00000256948', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.29}]
chr12 GH12I000149 149089 150817 0.2 [{'connected_gene': 'LOC574538', 'score': 563.92}, {'connected_gene': 'IQSEC3', 'score': 16.05}, {'connected_gene': 'ENSG00000256694', 'score': 0.37}]
chr12 GH12I000147 147038 147759 0.38 [{'connected_gene': 'LOC574538', 'score': 563.81}, {'connected_gene': 'LOC105369593', 'score': 0.28}, {'connected_gene': 'IQSEC3', 'score': 0.18}]
chr12 GH12I000139 139215 139364 0.63 [{'connected_gene': 'LOC574538', 'score': 0.44}, {'connected_gene': 'LOC105369593', 'score': 0.31}, {'connected_gene': 'IQSEC3', 'score': 0.19}]
chr12 GH12I000176 176050 177830 1.11 [{'connected_gene': 'LOC574538', 'score': 11.04}, {'connected_gene': 'ENSG00000256540', 'score': 9.74}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'ENSG00000256694', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000140 139610 140228 0.79 [{'connected_gene': 'IQSEC3', 'score': 8.07}, {'connected_gene': 'LOC574538', 'score': 0.44}, {'connected_gene': 'LOC105369593', 'score': 0.31}]
chr12 GH12I000131 131607 132710 0.46 [{'connected_gene': 'IQSEC3', 'score': 18.4}, {'connected_gene': 'LOC574538', 'score': 0.37}, {'connected_gene': 'LOC105369593', 'score': 0.34}]
chr12 GH12I000163 162691 162867 0.63 [{'connected_gene': 'IQSEC3', 'score': 25.65}, {'connected_gene': 'ENSG00000256694', 'score': 0.77}, {'connected_gene': 'LOC574538', 'score': 0.39}]
chr12 GH12I000162 162935 163238 0.62 [{'connected_gene': 'IQSEC3', 'score': 26.18}, {'connected_gene': 'ENSG00000256694', 'score': 0.77}, {'connected_gene': 'LOC574538', 'score': 0.39}]
chr12 GH12I000077 77347 77406 0.93 [{'connected_gene': 'IQSEC3', 'score': 550.39}, {'connected_gene': 'ENSG00000256694', 'score': 11.62}, {'connected_gene': 'LOC574538', 'score': 10.87}, {'connected_gene': 'ENSG00000256948', 'score': 0.29}]
chr12 GH12I000130 130892 131591 0.2 [{'connected_gene': 'IQSEC3', 'score': 17.26}, {'connected_gene': 'LOC105369593', 'score': 0.37}, {'connected_gene': 'LOC574538', 'score': 0.37}]
chr12 GH12I000173 172401 173004 0.72 [{'connected_gene': 'IQSEC3', 'score': 11.04}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'ENSG00000256540', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.39}]
chr12 GH12I000174 174923 175885 0.46 [{'connected_gene': 'IQSEC3', 'score': 7.34}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'ENSG00000256540', 'score': 0.44}]
chr12 GH12I000144 143255 146258 0.89 [{'connected_gene': 'IQSEC3', 'score': 13.85}, {'connected_gene': 'ENSG00000255671', 'score': 11.41}, {'connected_gene': 'LOC101929384', 'score': 11.39}, {'connected_gene': 'SLC6A12', 'score': 11.37}, {'connected_gene': 'SLC6A13', 'score': 11.12}, {'connected_gene': 'LOC102723544', 'score': 9.84}, {'connected_gene': 'LOC574538', 'score': 8.46}, {'connected_gene': 'LOC105369593', 'score': 0.29}]
chr12 GH12I000067 65575 65724 0.4 [{'connected_gene': 'IQSEC3', 'score': 550.77}, {'connected_gene': 'GC12M000043', 'score': 0.34}]
chr12 GH12I000066 66600 66944 1.66 [{'connected_gene': 'IQSEC3', 'score': 550.77}, {'connected_gene': 'ENSG00000256948', 'score': 0.25}]
chr12 GH12I000085 85138 85822 0.31 [{'connected_gene': 'IQSEC3', 'score': 0.37}, {'connected_gene': 'ENSG00000256948', 'score': 0.31}]
chr12 GH12I000065 65846 66533 0.63 [{'connected_gene': 'IQSEC3', 'score': 550.77}, {'connected_gene': 'GC12M000043', 'score': 0.34}]
chr12 GH12I000111 111835 111984 0.49 [{'connected_gene': 'LOC105369593', 'score': 550.77}, {'connected_gene': 'ENSG00000256948', 'score': 550.77}, {'connected_gene': 'LOC574538', 'score': 11.52}, {'connected_gene': 'IQSEC3', 'score': 0.25}]
chr12 GH12I000112 111712 111771 0.61 [{'connected_gene': 'LOC105369593', 'score': 550.77}, {'connected_gene': 'ENSG00000256948', 'score': 550.77}, {'connected_gene': 'IQSEC3', 'score': 550.26}, {'connected_gene': 'LOC574538', 'score': 11.52}]
chr12 GH12I000164 164084 165216 0.74 [{'connected_gene': 'ENSG00000256694', 'score': 550.77}, {'connected_gene': 'SLC6A12', 'score': 5.16}, {'connected_gene': 'LOC105369592', 'score': 0.37}, {'connected_gene': 'LOC574538', 'score': 0.37}, {'connected_gene': 'IQSEC3', 'score': 0.15}]
chr12 GH12I000102 102532 103964 0.64 [{'connected_gene': 'ENSG00000256694', 'score': 11.39}, {'connected_gene': 'LOC574538', 'score': 11.2}, {'connected_gene': 'ENSG00000255671', 'score': 10.72}, {'connected_gene': 'LOC101929384', 'score': 10.7}, {'connected_gene': 'SLC6A12', 'score': 10.69}, {'connected_gene': 'ENSG00000256948', 'score': 6.17}, {'connected_gene': 'IQSEC3', 'score': 5.83}]
chr12 GH12I000103 102220 102344 0.57 [{'connected_gene': 'ENSG00000256694', 'score': 11.39}, {'connected_gene': 'LOC574538', 'score': 11.2}, {'connected_gene': 'ENSG00000255671', 'score': 10.71}, {'connected_gene': 'LOC101929384', 'score': 10.7}, {'connected_gene': 'SLC6A12', 'score': 10.69}, {'connected_gene': 'ENSG00000256948', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.28}]
chr12 GH12I000106 106169 106523 0.71 [{'connected_gene': 'ENSG00000256694', 'score': 11.4}, {'connected_gene': 'LOC574538', 'score': 11.21}, {'connected_gene': 'ENSG00000255671', 'score': 10.72}, {'connected_gene': 'LOC101929384', 'score': 10.71}, {'connected_gene': 'SLC6A12', 'score': 10.69}, {'connected_gene': 'LOC105369593', 'score': 0.44}, {'connected_gene': 'ENSG00000256948', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.28}]
chr12 GH12I000188 188065 189991 1.42 [{'connected_gene': 'GC12P000187', 'score': 550.77}, {'connected_gene': 'IQSEC3', 'score': 11.09}, {'connected_gene': 'ENSG00000256540', 'score': 9.73}, {'connected_gene': 'ENSG00000255671', 'score': 0.77}, {'connected_gene': 'SLC6A12', 'score': 0.31}]
chr12 GH12I000166 166397 168002 0.46 [{'connected_gene': 'ENSG00000256694', 'score': 550.77}, {'connected_gene': 'IQSEC3', 'score': 18.38}, {'connected_gene': 'LOC105369592', 'score': 0.37}, {'connected_gene': 'ENSG00000256540', 'score': 0.37}]
chr12 GH12I000046 46073 46497 0.38 [{'connected_gene': 'GC12M000043', 'score': 0.77}, {'connected_gene': 'IQSEC3', 'score': 0.34}]
chr12 GH12I000170 170623 170743 0.38 [{'connected_gene': 'ENSG00000256694', 'score': 0.77}, {'connected_gene': 'LOC105369592', 'score': 0.39}, {'connected_gene': 'ENSG00000256540', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.15}]
chr12 GH12I000175 174458 174632 0.38 [{'connected_gene': 'ENSG00000256540', 'score': 8.42}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000177 174043 174222 0.31 [{'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.44}, {'connected_gene': 'ENSG00000256540', 'score': 0.44}, {'connected_gene': 'IQSEC3', 'score': 0.14}]
chr12 GH12I000171 171372 171625 0.38 [{'connected_gene': 'ENSG00000256540', 'score': 6.02}, {'connected_gene': 'ENSG00000256694', 'score': 0.44}, {'connected_gene': 'LOC105369592', 'score': 0.39}, {'connected_gene': 'IQSEC3', 'score': 0.15}]
chr12 GH12I000152 152109 153444 1.05 [{'connected_gene': 'ENSG00000255671', 'score': 11.27}, {'connected_gene': 'LOC101929384', 'score': 11.24}, {'connected_gene': 'SLC6A12', 'score': 11.22}, {'connected_gene': 'SLC6A13', 'score': 11.04}, {'connected_gene': 'LOC574538', 'score': 10.77}, {'connected_gene': 'LOC102723544', 'score': 9.75}, {'connected_gene': 'IQSEC3', 'score': 5.71}, {'connected_gene': 'ENSG00000256694', 'score': 0.39}]
chr12 GH12I000141 140578 143097 0.2 [{'connected_gene': 'ENSG00000256694', 'score': 11.44}, {'connected_gene': 'ENSG00000255671', 'score': 11.4}, {'connected_gene': 'LOC101929384', 'score': 11.38}, {'connected_gene': 'SLC6A12', 'score': 11.36}, {'connected_gene': 'SLC6A13', 'score': 11.12}, {'connected_gene': 'IQSEC3', 'score': 10.4}, {'connected_gene': 'LOC102723544', 'score': 9.83}, {'connected_gene': 'LOC574538', 'score': 5.31}, {'connected_gene': 'LOC105369593', 'score': 0.31}]
chr12 GH12I000143 143116 143184 0.2 [{'connected_gene': 'ENSG00000255671', 'score': 11.41}, {'connected_gene': 'LOC101929384', 'score': 11.38}, {'connected_gene': 'SLC6A12', 'score': 11.36}, {'connected_gene': 'SLC6A13', 'score': 11.12}, {'connected_gene': 'LOC102723544', 'score': 9.84}, {'connected_gene': 'LOC574538', 'score': 0.44}, {'connected_gene': 'LOC105369593', 'score': 0.29}, {'connected_gene': 'IQSEC3', 'score': 0.18}]
chr12 GH12I000109 109548 110224 0.46 [{'connected_gene': 'ENSG00000256948', 'score': 550.77}, {'connected_gene': 'ENSG00000255671', 'score': 11.23}, {'connected_gene': 'LOC101929384', 'score': 11.21}, {'connected_gene': 'SLC6A12', 'score': 11.2}, {'connected_gene': 'ENSG00000256694', 'score': 11.12}, {'connected_gene': 'LOC574538', 'score': 11.0}, {'connected_gene': 'IQSEC3', 'score': 6.61}, {'connected_gene': 'LOC105369593', 'score': 0.77}]
chr12 GH12I000108 108115 108264 0.67 [{'connected_gene': 'ENSG00000255671', 'score': 11.23}, {'connected_gene': 'LOC101929384', 'score': 11.21}, {'connected_gene': 'SLC6A12', 'score': 11.19}, {'connected_gene': 'ENSG00000256694', 'score': 11.12}, {'connected_gene': 'LOC574538', 'score': 10.99}, {'connected_gene': 'ENSG00000256948', 'score': 6.36}, {'connected_gene': 'LOC105369593', 'score': 0.77}, {'connected_gene': 'IQSEC3', 'score': 0.26}]

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